Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies

Abstract excerpt

Next generation sequencing (NGS) has revolutionised rare disease diagnostics. Concomitant with advancing technologies has been a rise in the number of new gene disorders discovered and diagnoses made for patients and their families. However, despite the trend towards whole exome and whole genome sequencing, diagnostic rates remain suboptimal. On average, only ~30% of patients receive a molecular diagnosis....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic factors in colorectal cancer
• Share to Genomic variations and chromosomal abnormalities
• Share to Genomics and Rare Diseases